Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs9942416
rs9942416 		9 5 75741470 intergenic variant C/G snv 0.53 0.700 1.000 1 2016 2016
dbSNP: rs5758896
rs5758896
A4GALT
3 22 42719570 intron variant T/C snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs77542162
rs77542162
ABCA6
11 1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs10901252
rs10901252
ABO
3 9 133252613 non coding transcript exon variant G/C snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs2519093
rs2519093
ABO
16 0.882 0.200 9 133266456 intron variant T/C snv 0.700 1.000 1 2018 2018
dbSNP: rs8176643
rs8176643
ABO
3 9 133274294 intron variant C/- del 0.700 1.000 1 2016 2016
dbSNP: rs6430549
rs6430549
ACMSD ; CCNT2-AS1
1 2 134858776 intron variant A/G snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs7045087
rs7045087
ACO1 ; DDX58
3 9 32455264 downstream gene variant T/C snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs1879154
rs1879154
ACSBG1
3 15 78244813 intron variant T/A;C snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs10953299
rs10953299
ACTL6B
1 7 100645788 intron variant T/C snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs342437
rs342437
AFF1
2 4 87119757 intron variant A/G snv 0.65 0.700 1.000 1 2018 2018
dbSNP: rs60695258
rs60695258
AFF1
4 4 87101557 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs67145503
rs67145503
AK1
3 9 127866245 downstream gene variant T/A snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs57908212
rs57908212
AP3D1
3 19 2161322 intron variant T/C snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs651821
rs651821
APOA5
17 0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89 0.700 1.000 1 2018 2018
dbSNP: rs4420638
rs4420638
APOC1
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs12889267
rs12889267
ARHGEF40
4 14 21074607 missense variant A/G snv 0.16 0.13 0.700 1.000 1 2016 2016
dbSNP: rs12579302
rs12579302
ATP2B1
19 0.851 0.120 12 89656726 intron variant A/G snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs2074755
rs2074755
BAZ1B
20 0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs9895661
rs9895661
BCAS3
10 0.882 0.200 17 61379228 non coding transcript exon variant C/T snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs4803750
rs4803750
BCL3
22 0.807 0.240 19 44744370 upstream gene variant A/G snv 7.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs7311607
rs7311607
CACNA1C
1 12 2413815 intron variant A/G snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs7312105
rs7312105
CACNA1C
2 12 2414189 intron variant A/G snv 0.34 0.700 1.000 1 2012 2012
dbSNP: rs147233090
rs147233090
CATSPER2P1
6 0.925 0.040 15 43735849 intron variant C/T snv 1.7E-02 0.700 1.000 1 2016 2016